A19S (p.Ala19Ser) variant of PDX1 (P52945)
A19S (p.Ala19Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 13-27920193-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.45
- CADD 24.30
- PolyPhen-2 0.73
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available